GENE REFERENCE / HGNC:14388

GP6

glycoprotein VI platelet

protein-coding gene19q13.42Gene information

What does this gene do?

The GP6 gene provides instructions for making a protein called glycoprotein VI (GPVI). GPVI is a receptor protein that is embedded in the outer membrane of blood cells called platelets, which are an essential component of blood clots. Normally, blood clots protect the body after an injury by sealing off damaged blood vessels and preventing further blood loss.

Receptor proteins, like GPVI, have specific sites into which certain other proteins, called ligands, fit like keys into locks. Together, ligands and their receptors trigger signals that affect cell function. The main ligand for GPVI is a protein called collagen, which is found on blood vessel walls. In response to an injury that causes bleeding, the GPVI protein attaches (binds) to collagen, which begins clot formation and signals additional platelets to come together to increase the size of the clot. The GPVI protein can also bind to a protein called fibrin, which is the main protein that forms blood clots.

Source: MedlinePlus, National Library of Medicine. Source publication: 2020-08-18. Source review: 2017-03.

ClinGen reviews

ClinGen reviews the evidence linking a particular gene to a condition. Each rating below describes the strength of that link. It does not classify a variant in your DNA file.

Condition	Inheritance	Evidence
platelet-type bleeding disorder 11MONDO:0013623 · Evaluated 2019-10-23	Autosomal recessive	DefinitiveHemostasis/Thrombosis Gene Curation Expert Panel

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 382
Submissions for variants in or overlapping this gene: 627
Submissions explicitly reporting this gene: 598
Alleles reported pathogenic / likely pathogenic: 21
VariationIDs with uncertain significance: 159
VariationIDs with conflicting classifications: 8

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about GP6?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 21 alleles in GP6 reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in GP6.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

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